MCID: XRD010
MIFTS: 56

Xeroderma Pigmentosum, Variant Type malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 65UMLS, 10Disease Ontology, 68Wikipedia, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 36MeSH, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 49 11 45 65
Xeroderma Pigmentosum 10 11 68 21 45 22 23 47 12 36
Xpv 45 51 67
Xp 45 22 23
Xeroderma Pigmentosum with Normal Dna Repair Rates 45 67
Xeroderma Pigmentosum Variant 51 24
 
Desanctis-Cacchione Syndrome 22 23
Xeroderma Pigmentosa 45 22
Photosensitivity with Defective Dna Synthesis 45
Xeroderma Pigmentosum Variant Type 67
De Sanctis-Cacchione Syndrome 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult


External Ids:

OMIM49 278750
Disease Ontology10 DOID:0050427
MeSH36 D014983
Orphanet51 90342
ICD10 via Orphanet28 Q82.1
MESH via Orphanet37 C536766
UMLS via Orphanet66 C0432328, C1848410
ICD1027 Q82.1
MedGen34 C1848410

Summaries for Xeroderma Pigmentosum, Variant Type

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OMIM:49 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, group a and xeroderma pigmentosum, group e, ddb-negative subtype, and has symptoms including cutaneous photosensitivity, poikiloderma and freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (Polymerase (DNA Directed), Eta), and among its related pathways are DNA damage_Role of Brca1 and Brca2 in DNA repair and Homologous DNA Pairing and Strand Exchange. Affiliated tissues include skin and eye, and related mouse phenotypes are adipose tissue and liver/biliary system.

Disease Ontology:10 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of dna repair.

Genetics Home Reference:23 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

NIH Rare Diseases:45 Xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop in infancy or early childhood. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least eight genes have been identified. the condition is inherited in an autosomal recessive manner. last updated: 10/21/2010

UniProtKB/Swiss-Prot:67 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Wikipedia:68 Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews summary for xp

Related Diseases for Xeroderma Pigmentosum, Variant Type

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Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 243)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group a32.0ERCC4, RPA1, XPA, XPC
2xeroderma pigmentosum, group e, ddb-negative subtype31.4DDB1, DDB2, XPC
3cockayne syndrome, type a31.3ERCC6, ERCC8
4xeroderma pigmentosum, group c31.2CETN2, DDB2, ERCC2, ERCC3, ERCC5, ERCC8
5cockayne syndrome, type b30.9ERCC6, ERCC8
6cerebrooculofacioskeletal syndrome 130.7ERCC2, ERCC5, ERCC6
7trichothiodystrophy 1, photosensitive30.6ERCC2, ERCC3, XPC, XRCC1
8congenital stationary night blindness30.3ERCC2, ERCC3
9cerebrooculofacioskeletal syndrome 230.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
10cockayne syndrome11.1
11xeroderma pigmentosum, group d11.0
12xeroderma pigmentosum, group g11.0
13xeroderma pigmentosum, group f10.9
14xeroderma pigmentosum, group b10.9
15melanoma10.9
16basal cell carcinoma10.8
17lung cancer10.7
18xeroderma pigmentosum-cockayne syndrome complex10.7
19angiosarcoma10.6
20de sanctis-cacchione syndrome10.6
21ataxia10.6
22prostate cancer10.6
23breast cancer10.6
24prostatitis10.6
25xeroderma pigmentosum, type 910.6
26photoparoxysmal response 110.5
27ataxia-telangiectasia10.5
28gastric cancer10.5
29skin conditions10.5
30skin disease10.5
31herpes simplex10.5
32keratoacanthoma10.5
33nutritional deficiency disease10.5
34ovarian cancer10.5
35pigmentation disease10.5
36pre-malignant neoplasm10.5
37skin benign neoplasm10.5
38skin pigmentation disorders10.5
39ercc1-related xeroderma pigmentosum10.5
40chromosome xp deletion10.5
41anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.4
42cerebrooculofacioskeletal syndrome 310.4
43adenocarcinoma10.4
44esophagitis10.4
45laryngitis10.4
46neurologic diseases10.4
47xeroderma pigmentosum, type 210.4
48ddb2-related xeroderma pigmentosum10.4
49ercc2-related xeroderma pigmentosum10.4
50ercc3-related xeroderma pigmentosum10.4

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms for Xeroderma Pigmentosum, Variant Type

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Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Symptoms:

 51 (show all 10)
  • skin photosensitivity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • excessive freckling
  • telangiectasic erythema/poikiloderma
  • warts/papillomas
  • autosomal recessive inheritance
  • skin hypoplasia/aplasia/atrophy
  • dry/squaly skin/exfoliation
  • telangiectasiae of the skin
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

HPO human phenotypes related to Xeroderma Pigmentosum, Variant Type:

(show all 59)
id Description Frequency HPO Source Accession
1 cutaneous photosensitivity hallmark (90%) HP:0000992
2 poikiloderma hallmark (90%) HP:0001029
3 freckling hallmark (90%) HP:0001480
4 verrucae hallmark (90%) HP:0200043
5 abnormality of the teeth hallmark (90%) HP:0000164
6 conjunctival telangiectasia hallmark (90%) HP:0000524
7 optic atrophy hallmark (90%) HP:0000648
8 dry skin hallmark (90%) HP:0000958
9 thin skin hallmark (90%) HP:0000963
10 eeg abnormality hallmark (90%) HP:0002353
11 developmental regression hallmark (90%) HP:0002376
12 arthralgia hallmark (90%) HP:0002829
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 cognitive impairment hallmark (90%) HP:0100543
15 teleangiectasia of the skin hallmark (90%) HP:0100585
16 dry skin typical (50%) HP:0000958
17 teleangiectasia of the skin typical (50%) HP:0100585
18 cryptorchidism typical (50%) HP:0000028
19 sensorineural hearing impairment typical (50%) HP:0000407
20 strabismus typical (50%) HP:0000486
21 cataract typical (50%) HP:0000518
22 hyperkeratosis typical (50%) HP:0000962
23 hypermelanotic macule typical (50%) HP:0001034
24 hypopigmented skin patches typical (50%) HP:0001053
25 melanoma typical (50%) HP:0002861
26 verrucae typical (50%) HP:0200043
27 microcephaly occasional (7.5%) HP:0000252
28 blepharitis occasional (7.5%) HP:0000498
29 photophobia occasional (7.5%) HP:0000613
30 melanocytic nevus occasional (7.5%) HP:0000995
31 pterygium occasional (7.5%) HP:0001059
32 seizures occasional (7.5%) HP:0001250
33 hypertonia occasional (7.5%) HP:0001276
34 reduced tendon reflexes occasional (7.5%) HP:0001315
35 alopecia occasional (7.5%) HP:0001596
36 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
37 cerebral cortical atrophy occasional (7.5%) HP:0002120
38 incoordination occasional (7.5%) HP:0002311
39 delayed skeletal maturation occasional (7.5%) HP:0002750
40 aminoaciduria occasional (7.5%) HP:0003355
41 short stature occasional (7.5%) HP:0004322
42 craniofacial hyperostosis occasional (7.5%) HP:0004493
43 opacification of the corneal stroma occasional (7.5%) HP:0007759
44 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
45 peripheral neuropathy occasional (7.5%) HP:0009830
46 neoplasm of the eye occasional (7.5%) HP:0100012
47 neoplasm of the oral cavity occasional (7.5%) HP:0100649
48 autosomal recessive inheritance HP:0000007
49 keratitis HP:0000491
50 conjunctivitis HP:0000509
51 photophobia HP:0000613
52 entropion HP:0000621
53 ectropion HP:0000656
54 cutaneous photosensitivity HP:0000992
55 poikiloderma HP:0001029
56 basal cell carcinoma HP:0002671
57 squamous cell carcinoma HP:0002860
58 dermal atrophy HP:0004334
59 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2652191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
 
D04687
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
2
Isotretinoinapproved1104759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Absorica
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
Clarus
D00348
D015474
EINECS 225-296-0
EU-0101081
Epuris
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
 
Isotretinoin Retinoic acid
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
Myorisan
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
Zenatane
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumActive, not recruitingNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
4Isotretinoin in Preventing Skin CancerCompletedNCT00025012
5Xeroderma Pigmentosum Patient ExperiencesRecruitingNCT01123694
6Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
7Cancer Risk in Carriers of the Gene for Xeroderma PigmentosumRecruitingNCT00046189
8Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type


Cochrane evidence based reviews: Xeroderma Pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum22 24 XPC
2 Xeroderma Pigmentosum, Variant Type24

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

33
Skin, Eye

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.8ERCC1, ERCC2, ERCC6, RAD23B, TP53, XPA
2MP:00053709.4CUL4A, ERCC1, ERCC4, ERCC5, ERCC6, TP53
3MP:00053919.1DDB1, ERCC2, ERCC6, ERCC8, RAD23B, TP53
4MP:00053868.9ERCC1, ERCC2, ERCC3, ERCC6, RAD23B, TP53
5MP:00107718.5DDB2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
6MP:00053978.5CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
7MP:00053878.3CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
8MP:00020068.1CUL4A, DDB2, ERCC1, ERCC2, ERCC3, ERCC6
9MP:00053768.0CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
10MP:00053787.9CUL4A, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
11MP:00053847.4CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
12MP:00107687.2CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3

Publications for Xeroderma Pigmentosum, Variant Type

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Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Variations for Xeroderma Pigmentosum, Variant Type

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

67
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236
7POLHp.Arg93ProVAR_070836
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC6NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter)single nucleotide variantPathogenicrs121917901GRCh37Chr 10, 50686483: 50686483
2POLHPOLH, 13-BP DEL, NT343deletionPathogenic
3POLHPOLH, 4-BP DEL, NT289deletionPathogenic
4POLHPOLH, 2-BP DEL, NT770deletionPathogenic
5POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)single nucleotide variantPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
6POLHPOLH, DEL AND TRP297TERdeletionPathogenic
7POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)single nucleotide variantPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
8POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)single nucleotide variantPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
9POLHPOLH, 104-BP DEL, NT661deletionPathogenic
10POLHPOLH, 1-BP DEL, 207GdeletionPathogenic
11POLHPOLH, 3-BP DEL, NT222deletionPathogenic
12POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)single nucleotide variantPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
13POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)single nucleotide variantPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Cosmic variations for Xeroderma Pigmentosum, Variant Type:

7 (show top 50)    (show all 82)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
144310TP53skin,NS,carcinoma,basal cell carcinoma3
244925TP53skin,NS,carcinoma,basal cell carcinoma3
343842TP53skin,NS,carcinoma,basal cell carcinoma3
410660TP53skin,NS,carcinoma,basal cell carcinoma3
510704TP53skin,NS,carcinoma,basal cell carcinoma3
644167TP53skin,NS,carcinoma,basal cell carcinoma3
743665TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943702TP53skin,NS,carcinoma,basal cell carcinoma3
1010771TP53skin,NS,carcinoma,basal cell carcinoma3
1145015TP53skin,NS,carcinoma,basal cell carcinoma3
1245740TP53skin,NS,carcinoma,basal cell carcinoma3
1343586TP53skin,eye,carcinoma,squamous cell carcinoma3
1444074TP53skin,NS,carcinoma,basal cell carcinoma3
1543583TP53skin,eye,carcinoma,basal cell carcinoma3
1644096TP53skin,NS,carcinoma,basal cell carcinoma3
1744606TP53skin,NS,carcinoma,basal cell carcinoma3
1843608TP53skin,NS,carcinoma,basal cell carcinoma3
1943616TP53skin,NS,carcinoma,basal cell carcinoma3
2043635TP53skin,NS,carcinoma,basal cell carcinoma3
2110648TP53skin,NS,carcinoma,basal cell carcinoma3
2243700TP53skin,NS,carcinoma,basal cell carcinoma3
2343585TP53skin,NS,carcinoma,basal cell carcinoma3
2443592TP53skin,NS,carcinoma,basal cell carcinoma3
2543577TP53skin,NS,carcinoma,basal cell carcinoma3
2610812TP53skin,NS,carcinoma,basal cell carcinoma3
2710656TP53skin,NS,carcinoma,basal cell carcinoma3
2844603TP53skin,NS,carcinoma,basal cell carcinoma3
2945420TP53skin,NS,carcinoma,basal cell carcinoma3
3044126TP53skin,eye,carcinoma,basal cell carcinoma3
3144226TP53skin,NS,carcinoma,basal cell carcinoma3
326932TP53skin,NS,carcinoma,basal cell carcinoma3
3345739TP53skin,NS,carcinoma,basal cell carcinoma3
3443582TP53skin,NS,carcinoma,basal cell carcinoma3
3545444TP53skin,eye,carcinoma,squamous cell carcinoma3
3610659TP53skin,NS,carcinoma,basal cell carcinoma3
3743584TP53skin,NS,carcinoma,basal cell carcinoma3
3810768TP53skin,NS,carcinoma,basal cell carcinoma3
3943581TP53skin,NS,carcinoma,basal cell carcinoma3
4044097TP53skin,NS,carcinoma,basal cell carcinoma3
4110749TP53skin,NS,carcinoma,basal cell carcinoma3
4210988TP53skin,NS,carcinoma,basal cell carcinoma3
4344068TP53skin,NS,carcinoma,basal cell carcinoma3
446549TP53skin,NS,carcinoma,basal cell carcinoma3
4545424TP53skin,NS,carcinoma,basal cell carcinoma3
4610650TP53skin,NS,carcinoma,basal cell carcinoma3
4745423TP53skin,NS,carcinoma,basal cell carcinoma3
4810662TP53skin,NS,carcinoma,basal cell carcinoma3
4910794TP53skin,NS,carcinoma,basal cell carcinoma3
5043837TP53skin,NS,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9DDB2, TP53, XPC
2
Show member pathways
9.7ERCC1, ERCC4, POLH, RPA1
3
Show member pathways
9.7ERCC1, ERCC4, POLH, RPA1
4
Show member pathways
9.6ERCC2, ERCC3, ERCC6, GTF2H2
5
Show member pathways
9.3CUL4A, DDB1, POLH, RPA1, XRCC1
69.3ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, POLH
79.2ERCC2, ERCC3, GTF2H2, TP53, XPA, XPC
8
Show member pathways
7.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
97.6DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
10
Show member pathways
6.7CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
11
Show member pathways
6.5CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12
Show member pathways
6.1CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair factor 1 complexGO:000011010.9ERCC1, ERCC4
2ERCC4-ERCC1 complexGO:007052210.9ERCC1, ERCC4
3nucleotide-excision repair complexGO:000010910.6ERCC1, ERCC4, ERCC8
4core TFIIH complexGO:000043910.6ERCC2, ERCC3, GTF2H2
5XPC complexGO:007194210.5CETN2, RAD23B, XPC
6DNA replication factor A complexGO:000566210.5ERCC5, RPA1, XPA
7transcription factor TFIID complexGO:000566910.5ERCC1, ERCC4, TP53
8Cul4-RING E3 ubiquitin ligase complexGO:008000810.4CUL4A, DDB1
9holo TFIIH complexGO:000567510.4ERCC2, ERCC3, ERCC5, GTF2H2
10Cul4B-RING E3 ubiquitin ligase complexGO:003146510.3DDB1, DDB2
11nuclear chromosome, telomeric regionGO:000078410.1DDB1, ERCC1, ERCC4, RPA1
12Cul4A-RING E3 ubiquitin ligase complexGO:003146410.0CUL4A, DDB1, ERCC8
13nucleusGO:00056347.4DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
14nucleoplasmGO:00056546.0CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1response to UV-BGO:001022410.8ERCC6, XPC
2nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.8ERCC1, ERCC4
3hair cell differentiationGO:003531510.8ERCC2, ERCC3
4response to auditory stimulusGO:001099610.8XPA, XPC
5error-free translesion synthesisGO:007098710.7POLH, RPA1
6negative regulation of telomere maintenanceGO:003220510.7ERCC1, ERCC4
7cellular response to UV-CGO:007149410.7POLH, TP53
8response to UV-CGO:001022510.7ERCC5, POLH
9nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.7ERCC1, ERCC4, ERCC5
10regulation of proteasomal ubiquitin-dependent protein catabolic processGO:003243410.4RAD23A, RAD23B
11transcription from RNA polymerase I promoterGO:000636010.4ERCC2, ERCC3, GTF2H2
12transcription initiation from RNA polymerase I promoterGO:000636110.4ERCC2, ERCC3, GTF2H2
13termination of RNA polymerase I transcriptionGO:000636310.4ERCC2, ERCC3, GTF2H2
14protein sumoylationGO:001692510.4CETN2, RPA1, XPC
15regulation of mitotic cell cycle phase transitionGO:190199010.4DDB1, ERCC2, ERCC3, XPC
16histone H2A monoubiquitinationGO:003551810.4DDB1, DDB2
17pyrimidine dimer repairGO:000629010.4DDB2, ERCC6, POLH
18chromosome organizationGO:005127610.3ERCC1, RPA1, TP53
197-methylguanosine mRNA cappingGO:000637010.3ERCC2, ERCC3, GTF2H2
20transcription elongation from RNA polymerase I promoterGO:000636210.3ERCC2, ERCC3, ERCC6, GTF2H2
21interstrand cross-link repairGO:003629710.3ERCC1, ERCC4, RPA1
22transcription elongation from RNA polymerase II promoterGO:000636810.3ERCC2, ERCC3, GTF2H2
23positive regulation of viral transcriptionGO:005043410.3ERCC2, ERCC3, GTF2H2
24UV protectionGO:000965010.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
25UV-damage excision repairGO:007091410.2DDB1, DDB2, XPC
26response to X-rayGO:001016510.2ERCC1, ERCC6, ERCC8, TP53
27transcription initiation from RNA polymerase II promoterGO:000636710.0ERCC2, ERCC3, GTF2H2, TP53
28in utero embryonic developmentGO:000170110.0CUL4A, ERCC2, RPA1, TP53
29double-strand break repair via homologous recombinationGO:000072410.0ERCC1, ERCC4, RPA1, XRCC1
30base-excision repairGO:00062849.9ERCC6, RPA1, TP53, XRCC1
31regulation of gene expression, epigeneticGO:00400299.8ERCC2, ERCC3, GTF2H2
32multicellular organism growthGO:00352649.8ERCC1, ERCC2, ERCC6, TP53, XPA
33double-strand break repairGO:00063029.7ERCC1, ERCC4, RPA1, TP53, XRCC1
34DNA damage response, detection of DNA damageGO:00427699.7CUL4A, DDB1, RPA1
35translesion synthesisGO:00199859.6CUL4A, DDB1, POLH, RPA1
36proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.6CUL4A, DDB1, ERCC8, RAD23A, RAD23B
37negative regulation of gene expression, epigeneticGO:00458149.5ERCC2, ERCC3, GTF2H2
38nucleotide-excision repair, DNA damage recognitionGO:00007159.5CETN2, CUL4A, DDB1, DDB2, RAD23B, XPC
39response to oxidative stressGO:00069799.3ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, TP53
40viral processGO:00160329.0CUL4A, DDB1, ERCC2, ERCC3, GTF2H2, RAD23A
41cellular response to DNA damage stimulusGO:00069748.9ERCC1, ERCC6, ERCC8, RAD23A, RAD23B, TP53
42response to UVGO:00094118.5DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
43nucleotide-excision repair, DNA incisionGO:00336838.4CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
44nucleotide-excision repair, DNA damage removalGO:00007188.4DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
45transcription-coupled nucleotide-excision repairGO:00062838.1CUL4A, DDB1, ERCC1, ERCC2, ERCC3, ERCC4
46global genome nucleotide-excision repairGO:00709117.5CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
47nucleotide-excision repairGO:00062896.6CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
48DNA repairGO:00062816.6CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1TFIID-class transcription factor bindingGO:000109410.9ERCC1, ERCC4
2bubble DNA bindingGO:000040510.8ERCC5, XPC
3single-stranded DNA endodeoxyribonuclease activityGO:000001410.8ERCC1, ERCC4
4structure-specific DNA bindingGO:004356610.8ERCC1, ERCC4
5endodeoxyribonuclease activityGO:000452010.6ERCC4, ERCC5
6endonuclease activityGO:000451910.6ERCC1, ERCC4, ERCC5
7RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.4ERCC2, ERCC3, GTF2H2
8DNA-dependent ATPase activityGO:00080949.9ERCC2, ERCC3, ERCC6, ERCC8, GTF2H2
9protein N-terminus bindingGO:00474859.7ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, GTF2H2
10protein C-terminus bindingGO:00080229.6ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
11single-stranded DNA bindingGO:00036979.5ERCC1, ERCC4, ERCC5, RAD23A, RAD23B, RPA1
12DNA bindingGO:00036778.7DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
13damaged DNA bindingGO:00036848.2DDB1, DDB2, ERCC1, ERCC3, ERCC4, POLH
14protein bindingGO:00055156.1CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Sources for Xeroderma Pigmentosum, Variant Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet